A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201828



Internal ID20768869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202624693..202625409hg38UCSC Ensembl
chr1:202593821..202594537hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38717
hg19717
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333132
Supporting Variants
Samples
Known GenesSYT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201828
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.85694


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